Biallelic alterations in the INI1 gene were identified in 4 of the 5 cases of atypical teratoid/rhabdoid tumors. Three of the 4 cases harbored 2 different mutations, presumably on different alleles (compound heterozygous mutations), and 1 case of which had a splice-site mutation.

The epithelioid variant of schwannoma is rare, and loss of SMARCB1/INI1 expression has been observed in a subset of cases. Our aim was to further define the clinicopathologic features and to evaluate SMARCB1/INI1 deficiency in a large cohort of 65 epithelioid schwannomas diagnosed between 2002 and 2015

The occurrence of intracranial rhabdoid tumours depends on control of Smarcb1 inactivation.

These results support recent findings regarding the effectivity of EGFR (show EGFR Proteins) inhibitors in hindering the proliferation of human MRT cells and demonstrate that activation of EGFR (show EGFR Proteins) signaling in Rhabdoid tumors is SMARCB1 dependent.

these findings uncover a novel role for Snf5 in oligodendrocyte generation and survival, and they offer evidence of the first genetically engineered mouse model for AT/RT in the CNS.

This study show here that loss of Smarcb1 and Smarca4 (show SMARCA4 Proteins) leads to severe proliferation deficits of granule neuron precursors and a hypoplastic cerebellum.

results show that Smarcb1 is required for transcriptional activation of Igfbp7 (show IGFBP7 Proteins) and show that re-introduction of Igfbp7 (show IGFBP7 Proteins) alone can hinder tumor development; results define a novel mechanism for Smarcb1-mediated tumorigenesis

We find that inactivation of either Brg1 (show SMARCA4 Proteins) or Smarcb1 leads to disruptions of specific nucleosome patterning combined with a loss of overall nucleosome occupancy at a large number of promoters, regardless of their association with CpG islands.

SNF5 is a key mediator of Hedgehog (show SHH Proteins) signaling and that aberrant activation of GLI1 (show GLI1 Proteins) is a previously undescribed targetable mechanism contributing to the growth of malignant rhabdoid tumor cells.

Protein Summary

The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene.